MCF2L (MCF.2 cell line derived transforming sequence like)

2003-02-01  

Identity

HGNC
MCF2L
LOCATION
13q34
LOCUSID
23263
ALIAS
ARHGEF14,DBS,OST
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23263
MIM: 609499
HGNC: 14576
Ensembl: ENSG00000126217

Variants:

dbSNP: 23263
ClinVar: 23263
TCGA: ENSG00000126217
COSMIC: MCF2L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000126217ENST00000261963H3BLT1
ENSG00000126217ENST00000375597O15068
ENSG00000126217ENST00000375604O15068
ENSG00000126217ENST00000375608O15068
ENSG00000126217ENST00000397017H7BYP9
ENSG00000126217ENST00000397021A2A639
ENSG00000126217ENST00000397024A2A3G7
ENSG00000126217ENST00000397030O15068
ENSG00000126217ENST00000397036A2A3H1
ENSG00000126217ENST00000409954B7ZBR9
ENSG00000126217ENST00000413354H7C2S1
ENSG00000126217ENST00000420013H7C275
ENSG00000126217ENST00000421756O15068
ENSG00000126217ENST00000423251A2A640
ENSG00000126217ENST00000433807X6RE72
ENSG00000126217ENST00000439475H0Y7A3
ENSG00000126217ENST00000441756H0Y519
ENSG00000126217ENST00000442625F8WBK7
ENSG00000126217ENST00000453297H0Y4M6
ENSG00000126217ENST00000473345M0R393
ENSG00000126217ENST00000486806M0R1J7
ENSG00000126217ENST00000535094O15068

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signalling by NGFREACTOMER-HSA-166520
p75 NTR receptor-mediated signallingREACTOMER-HSA-193704
Cell death signalling via NRAGE, NRIF and NADEREACTOMER-HSA-204998
NRAGE signals death through JNKREACTOMER-HSA-193648
Signaling by Rho GTPasesREACTOMER-HSA-194315
Rho GTPase cycleREACTOMER-HSA-194840
Signaling by GPCRREACTOMER-HSA-372790
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (12/13) signalling eventsREACTOMER-HSA-416482

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
218715952011A variant in MCF2L is associated with osteoarthritis.46
147017952004Pleckstrin homology domain-mediated activation of the rho-specific guanine nucleotide exchange factor Dbs by Rac1.14
265846422015Expression analysis of the osteoarthritis genetic susceptibility locus mapping to an intron of the MCF2L gene and marked by the polymorphism rs11842874.7
175627122007Role of the guanine nucleotide exchange factor Ost in negative regulation of receptor endocytosis by the small GTPase Rac1.6
226154572012Genetic contribution to radiographic severity in osteoarthritis of the knee.6
199110112010Mutation of ARHGAP9 in patients with coronary spastic angina.5
290396102017Establishment of a human primary pancreatic cancer mouse model to examine and investigate gemcitabine resistance.3
258989232016A rare variant in MCF2L identified using exclusion linkage in a pedigree with premature atherosclerosis.1

Citation

Dessen P

MCF2L (MCF.2 cell line derived transforming sequence like)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41316/mcf2l